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Mondo Disease Ontology
Preferred Name | fumaric aciduria | |
Synonyms |
FMRD fumarate hydratase deficiency fumaric aciduria fumarase deficiency |
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Definitions |
Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment. |
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ID |
http://purl.obolibrary.org/obo/MONDO_0011730 |
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database_cross_reference |
GARD:6476 UMLS:C0342770 OMIM:606812 MESH:C538191 Orphanet:24 NANDO:2200520 ICD9:282.3 SCTID:237983002 MEDGEN:87458 DOID:0111261
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|
definition |
Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.
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has_exact_synonym |
fumaric aciduria fumarase deficiency
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has_related_synonym |
FMRD fumarate hydratase deficiency
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id |
MONDO:0011730
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in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
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label |
fumaric aciduria
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notation |
MONDO:0011730
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prefLabel |
fumaric aciduria
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skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C0342770 http://identifiers.org/snomedct/237983002 http://purl.obolibrary.org/obo/DOID_0111261 http://purl.obolibrary.org/obo/Orphanet_24 http://identifiers.org/medgen/87458 |
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treeView |
http://purl.obolibrary.org/obo/MONDO_0016790 |
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subClassOf |
http://purl.obolibrary.org/obo/MONDO_0016790 |
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